309 individual melanocytes genotyped from human skin

We performed DNA and RNA sequencing of 309 colonies of normal human melanocytes from 58 biopsies from 34 unique donors. To accompany our manuscript, we include summaries of the 297 melanocyte clones from this study, with an additional 12 melanocyte colonies for validation. Each page of the pdf corresponds to an individual melanocyte clone and is structured similarly as follows:Panel A shows tissue and cellular images, where available, alongside information describing clone size, cell morphology, and anatomic location of the donor tissue.Panel B shows the variant allele fraction of raw calls relative to their validation status. Variant allele fractions indicate how we inferred the mutational status of variants outside of the expressed and phase-able portions of the genome. Variants were either validated as somatic mutations or assumed to be amplification artifacts (i.e. invalidated) based on their patterns in the DNA and RNA sequencing data. Note that variants that were validated as somatic mutations were more likely to have VAFs around 1 or 0.5. This is consistent with variants being either heterozygous (VAFs of 0.5) or homozygous (VAFs of 1). Pathogenic mutations are highlighted in red, while potentially pathogenic mutations are highlighted in orange.Panel C shows copy number alterations called from DNA and RNA sequencing data (red = gain; blue = loss) alongside any identified regions of allelic dropout (blue = mono-allelic dropout; black = bi-allelic dropout). The fraction of each clone with allelic dropout is indicated. As expected, deletions coincided with mono-allelic dropout, and thus we also report the portion of the genome with allelic dropout “excluding deletions” – this is an indicator of our sensitivity to detect mutations.Panel D, where available, depicts phylogenetically related cells, which include the number of similar mutations, unique mutations and the proportion of these mutations that are UV and non-UV.